NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp)
|
rs141371306
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_000532.5(PCCB):c.1127G>A (p.Arg376His)
|
rs142982097
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)
|
rs1169861687
|
0.00004
|
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln)
|
rs778742647
|
0.00004
|
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr)
|
rs1353542774
|
0.00004
|
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)
|
rs774738181
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg)
|
rs746102997
|
0.00003
|
NM_000282.4(PCCA):c.232-1G>A
|
rs794727620
|
0.00002
|
NM_000282.4(PCCA):c.689G>A (p.Arg230His)
|
rs747943045
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu)
|
rs780837200
|
0.00002
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu)
|
rs1443858896
|
0.00001
|
NM_000282.4(PCCA):c.1426C>T (p.Arg476Ter)
|
rs768703749
|
0.00001
|
NM_000282.4(PCCA):c.1540+1G>C
|
rs199604072
|
0.00001
|
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)
|
rs937519016
|
0.00001
|
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)
|
rs192171304
|
0.00001
|
NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter)
|
rs776496862
|
0.00001
|
NM_000282.4(PCCA):c.183+1G>A
|
rs757540625
|
0.00001
|
NM_000282.4(PCCA):c.1855C>T (p.Arg619Ter)
|
rs1194679272
|
0.00001
|
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)
|
rs999241357
|
0.00001
|
NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg)
|
rs771438170
|
0.00001
|
NM_000282.4(PCCA):c.2041-2A>G
|
rs776281864
|
0.00001
|
NM_000282.4(PCCA):c.2056G>T (p.Glu686Ter)
|
rs1241896966
|
0.00001
|
NM_000282.4(PCCA):c.2119-9A>G
|
rs1389933015
|
0.00001
|
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)
|
rs1387778734
|
0.00001
|
NM_000282.4(PCCA):c.231+1G>C
|
rs972937270
|
0.00001
|
NM_000282.4(PCCA):c.2dup (p.Met1fs)
|
rs1179536678
|
0.00001
|
NM_000282.4(PCCA):c.451G>T (p.Glu151Ter)
|
rs2053984648
|
0.00001
|
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)
|
rs778530330
|
0.00001
|
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)
|
rs1444049793
|
0.00001
|
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val)
|
rs751538672
|
0.00001
|
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser)
|
rs1349202366
|
0.00001
|
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys)
|
rs769521436
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000532.5(PCCB):c.177C>G (p.His59Gln)
|
rs757134877
|
0.00001
|
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter)
|
rs753981900
|
0.00001
|
NM_000532.5(PCCB):c.371del (p.Gln124fs)
|
rs1481849460
|
0.00001
|
NM_000532.5(PCCB):c.410A>G (p.His137Arg)
|
rs1391142709
|
0.00001
|
NM_000532.5(PCCB):c.493C>T (p.Arg165Trp)
|
rs879253815
|
0.00001
|
NM_000532.5(PCCB):c.494G>A (p.Arg165Gln)
|
rs1304714042
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000532.5(PCCB):c.544-2A>G
|
rs752377212
|
0.00001
|
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala)
|
rs796052024
|
0.00001
|
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser)
|
rs756414710
|
0.00001
|
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp)
|
rs778242891
|
0.00001
|
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp)
|
rs375999824
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NC_000003.11:g.(?_135980784)_(135980917_?)del
|
|
|
NC_000003.11:g.(?_136002659)_(136002809_?)del
|
|
|
NC_000013.10:g.(100764316_100807232)_(100861718_100888095)del
|
|
|
NC_000013.10:g.(100982926_100992410)_(100992514_101020725)del
|
|
|
NC_000013.10:g.(?_100953694)_(100962182_?)dup
|
|
|
NC_000013.10:g.(?_100953704)_(100962172_?)dup
|
|
|
NC_000013.10:g.(?_100982805)_(101020838_?)dup
|
|
|
NC_000013.11:g.(?_100154969)_(100273356_?)del
|
|
|
NC_000013.11:g.(?_100301460)_(100425731_?)del
|
|
|
NC_000013.11:g.(?_100425613)_(100425751_?)del
|
|
|
NC_000013.11:g.(?_100449242)_(100491683_?)del
|
|
|
NM_000282.4(PCCA):c.101_102del (p.Leu34fs)
|
|
|
NM_000282.4(PCCA):c.105+1G>C
|
|
|
NM_000282.4(PCCA):c.106-1G>A
|
rs769819121
|
|
NM_000282.4(PCCA):c.106-2A>G
|
|
|
NM_000282.4(PCCA):c.1065+1G>A
|
|
|
NM_000282.4(PCCA):c.1065+1G>C
|
rs2063433750
|
|
NM_000282.4(PCCA):c.1066G>C (p.Val356Leu)
|
rs1595202534
|
|
NM_000282.4(PCCA):c.1075_1077del (p.Pro359del)
|
rs1595202607
|
|
NM_000282.4(PCCA):c.1086_1087delinsTGTGTATAA (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1086del (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1086delinsCT (p.Glu362fs)
|
|
|
NM_000282.4(PCCA):c.1095del (p.Gly366fs)
|
|
|
NM_000282.4(PCCA):c.1117A>G (p.Met373Val)
|
|
|
NM_000282.4(PCCA):c.118_122del (p.Tyr40fs)
|
|
|
NM_000282.4(PCCA):c.1196G>T (p.Arg399Leu)
|
rs1301904623
|
|
NM_000282.4(PCCA):c.1209+2T>G
|
|
|
NM_000282.4(PCCA):c.1209+3A>G
|
rs1467680142
|
|
NM_000282.4(PCCA):c.1210-1G>A
|
|
|
NM_000282.4(PCCA):c.1267C>T (p.Pro423Ser)
|
|
|
NM_000282.4(PCCA):c.1268dup (p.Leu424fs)
|
|
|
NM_000282.4(PCCA):c.1285-2A>G
|
|
|
NM_000282.4(PCCA):c.1315del (p.Ser439fs)
|
|
|
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)
|
rs1595236063
|
|
NM_000282.4(PCCA):c.1349C>G (p.Ser450Ter)
|
|
|
NM_000282.4(PCCA):c.1353+5_1353+9del
|
rs764045674
|
|
NM_000282.4(PCCA):c.1408C>G (p.Leu470Val)
|
|
|
NM_000282.4(PCCA):c.1430-1G>A
|
rs2152733805
|
|
NM_000282.4(PCCA):c.1430-2A>T
|
|
|
NM_000282.4(PCCA):c.1540+2T>A
|
rs1555422449
|
|
NM_000282.4(PCCA):c.1541-1G>C
|
|
|
NM_000282.4(PCCA):c.1643+1_1643+2dup
|
rs1555425626
|
|
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)
|
rs2152811823
|
|
NM_000282.4(PCCA):c.1716dup (p.Val573fs)
|
rs2152811869
|
|
NM_000282.4(PCCA):c.1747-1G>C
|
rs879253803
|
|
NM_000282.4(PCCA):c.1750del (p.Glu584fs)
|
|
|
NM_000282.4(PCCA):c.1756_1757del (p.Asp586fs)
|
|
|
NM_000282.4(PCCA):c.1812_1815del (p.Val605fs)
|
|
|
NM_000282.4(PCCA):c.183+2T>C
|
rs1555342593
|
|
NM_000282.4(PCCA):c.184-1G>A
|
rs879253807
|
|
NM_000282.4(PCCA):c.1846-1G>A
|
rs1555298451
|
|
NM_000282.4(PCCA):c.1846-1G>T
|
rs1555298451
|
|
NM_000282.4(PCCA):c.1847_1848del
|
|
|
NM_000282.4(PCCA):c.1860del (p.Ala621fs)
|
|
|
NM_000282.4(PCCA):c.188_189del (p.Thr62_Phe63insTer)
|
|
|
NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg)
|
rs796052018
|
|
NM_000282.4(PCCA):c.1899+1G>T
|
|
|
NM_000282.4(PCCA):c.1899+2_1899+3insCT
|
rs2081058900
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.189del (p.Phe63fs)
|
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
NM_000282.4(PCCA):c.1900-2A>G
|
rs2152998141
|
|
NM_000282.4(PCCA):c.1987dup (p.Arg663fs)
|
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
NM_000282.4(PCCA):c.2002G>T (p.Gly668Ter)
|
|
|
NM_000282.4(PCCA):c.2027del (p.Lys676fs)
|
rs1555327702
|
|
NM_000282.4(PCCA):c.2040+1G>T
|
rs1555327732
|
|
NM_000282.4(PCCA):c.2040+2T>G
|
|
|
NM_000282.4(PCCA):c.2041-1G>T
|
rs1367867218
|
|
NM_000282.4(PCCA):c.2041_2044del
|
|
|
NM_000282.4(PCCA):c.2077A>T (p.Met693Leu)
|
rs1594160545
|
|
NM_000282.4(PCCA):c.2086C>T (p.Gln696Ter)
|
|
|
NM_000282.4(PCCA):c.2103del (p.Thr704fs)
|
rs1555331314
|
|
NM_000282.4(PCCA):c.2119-2A>G
|
rs867315913
|
|
NM_000282.4(PCCA):c.2159_2162dup (p.Asp722fs)
|
rs1594175453
|
|
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)
|
rs749875940
|
|
NM_000282.4(PCCA):c.21del (p.Thr8fs)
|
rs1593996210
|
|
NM_000282.4(PCCA):c.232-2A>G
|
rs747968405
|
|
NM_000282.4(PCCA):c.232-2A>T
|
rs747968405
|
|
NM_000282.4(PCCA):c.284del (p.Asp95fs)
|
rs775825345
|
|
NM_000282.4(PCCA):c.300+1G>A
|
|
|
NM_000282.4(PCCA):c.300+2T>G
|
|
|
NM_000282.4(PCCA):c.315_316insT (p.Ala106fs)
|
|
|
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
|
|
|
NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys)
|
rs936088423
|
|
NM_000282.4(PCCA):c.39del (p.Ala14fs)
|
rs1593996563
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.414+1G>C
|
|
|
NM_000282.4(PCCA):c.414+1G>T
|
rs2152383049
|
|
NM_000282.4(PCCA):c.415-1G>C
|
|
|
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp)
|
rs796052019
|
|
NM_000282.4(PCCA):c.440del (p.Leu146_Ser147insTer)
|
rs1555361758
|
|
NM_000282.4(PCCA):c.447del (p.Asn149fs)
|
|
|
NM_000282.4(PCCA):c.449_468+443del
|
rs2152387124
|
|
NM_000282.4(PCCA):c.458_459insAAATT (p.Arg154fs)
|
|
|
NM_000282.4(PCCA):c.459del (p.Arg154fs)
|
|
|
NM_000282.4(PCCA):c.468+1G>C
|
|
|
NM_000282.4(PCCA):c.468+2T>C
|
|
|
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)
|
rs202247815
|
|
NM_000282.4(PCCA):c.493G>T (p.Gly165Ter)
|
|
|
NM_000282.4(PCCA):c.524G>A (p.Gly175Asp)
|
rs1421021643
|
|
NM_000282.4(PCCA):c.587_588dup (p.Gly197fs)
|
|
|
NM_000282.4(PCCA):c.622del (p.Ile208fs)
|
|
|
NM_000282.4(PCCA):c.637+1G>A
|
rs1265911468
|
|
NM_000282.4(PCCA):c.637+2T>A
|
rs2152522245
|
|
NM_000282.4(PCCA):c.638-1G>A
|
|
|
NM_000282.4(PCCA):c.638-2A>G
|
|
|
NM_000282.4(PCCA):c.638-2del
|
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)
|
rs1555396108
|
|
NM_000282.4(PCCA):c.676_677insT (p.Gly226fs)
|
|
|
NM_000282.4(PCCA):c.677_678insTAAAGGGATTCGTAAGGTT (p.Met229fs)
|
|
|
NM_000282.4(PCCA):c.683G>T (p.Gly228Val)
|
rs1594961620
|
|
NM_000282.4(PCCA):c.69_78del (p.Gln23fs)
|
rs781030239
|
|
NM_000282.4(PCCA):c.716+1G>C
|
|
|
NM_000282.4(PCCA):c.716+2T>C
|
|
|
NM_000282.4(PCCA):c.717-2A>G
|
rs2062611307
|
|
NM_000282.4(PCCA):c.722del (p.Gly241fs)
|
rs745571507
|
|
NM_000282.4(PCCA):c.734C>A (p.Ser245Ter)
|
|
|
NM_000282.4(PCCA):c.786del (p.Lys262fs)
|
|
|
NM_000282.4(PCCA):c.803G>T (p.Arg268Leu)
|
rs368047060
|
|
NM_000282.4(PCCA):c.805C>T (p.His269Tyr)
|
rs2062620327
|
|
NM_000282.4(PCCA):c.819+1G>A
|
|
|
NM_000282.4(PCCA):c.820-1G>A
|
rs2063103516
|
|
NM_000282.4(PCCA):c.820-1G>T
|
|
|
NM_000282.4(PCCA):c.837del (p.His279fs)
|
|
|
NM_000282.4(PCCA):c.843del (p.Asn281fs)
|
rs1555400381
|
|
NM_000282.4(PCCA):c.844_846delinsAC (p.Ala282fs)
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
NM_000282.4(PCCA):c.869G>A (p.Cys290Tyr)
|
rs1595032920
|
|
NM_000282.4(PCCA):c.870C>A (p.Cys290Ter)
|
|
|
NM_000282.4(PCCA):c.872C>T (p.Ser291Leu)
|
rs1595033018
|
|
NM_000282.4(PCCA):c.889C>T (p.Gln297Ter)
|
|
|
NM_000282.4(PCCA):c.904G>T (p.Glu302Ter)
|
|
|
NM_000282.4(PCCA):c.914+1G>A
|
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000282.4(PCCA):c.971_974del (p.Ala324fs)
|
|
|
NM_000532.5(PCCB):c.1001_1002insACTACTTT (p.Asn335fs)
|
|
|
NM_000532.5(PCCB):c.1090+2T>C
|
rs1553782779
|
|
NM_000532.5(PCCB):c.1091-1G>A
|
rs2108237784
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
NM_000532.5(PCCB):c.1094G>A (p.Cys365Tyr)
|
|
|
NM_000532.5(PCCB):c.1095C>A (p.Cys365Ter)
|
|
|
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
|
|
|
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu)
|
rs142982097
|
|
NM_000532.5(PCCB):c.1145A>T (p.Asp382Val)
|
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
NM_000532.5(PCCB):c.1172T>G (p.Phe391Cys)
|
|
|
NM_000532.5(PCCB):c.1196C>G (p.Pro399Arg)
|
rs753037539
|
|
NM_000532.5(PCCB):c.1198+1G>A
|
rs1935333494
|
|
NM_000532.5(PCCB):c.1199-1G>A
|
|
|
NM_000532.5(PCCB):c.1215C>G (p.Tyr405Ter)
|
|
|
NM_000532.5(PCCB):c.1217_1219delinsTAGA (p.Gly406fs)
|
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
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NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
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NM_000532.5(PCCB):c.1223_1231delinsCAGGA (p.Ile408fs)
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NM_000532.5(PCCB):c.1234G>A (p.Gly412Ser)
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rs1576360539
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NM_000532.5(PCCB):c.1260dup (p.Glu421Ter)
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rs1553784569
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NM_000532.5(PCCB):c.1262_1263del (p.Glu421fs)
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NM_000532.5(PCCB):c.1288_1299+5del
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rs1250541852
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NM_000532.5(PCCB):c.1300-1G>A
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NM_000532.5(PCCB):c.1300-1G>C
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NM_000532.5(PCCB):c.1300-2A>C
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rs1553784684
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NM_000532.5(PCCB):c.1302_1303del (p.Tyr435fs)
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NM_000532.5(PCCB):c.1309G>T (p.Gly437Cys)
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NM_000532.5(PCCB):c.1310G>A (p.Gly437Asp)
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NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
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NM_000532.5(PCCB):c.1313C>T (p.Ala438Val)
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NM_000532.5(PCCB):c.1339C>T (p.Leu447Phe)
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rs1576360934
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NM_000532.5(PCCB):c.1373C>T (p.Ala458Val)
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rs1576360976
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NM_000532.5(PCCB):c.1379_1385del (p.Ile460fs)
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rs1553784721
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NM_000532.5(PCCB):c.1395_1398+8del
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NM_000532.5(PCCB):c.1398+2del
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rs2108239135
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NM_000532.5(PCCB):c.1399-1G>C
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NM_000532.5(PCCB):c.1429G>T (p.Glu477Ter)
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rs1553784921
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NM_000532.5(PCCB):c.1478del (p.Pro493fs)
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NM_000532.5(PCCB):c.1499-2A>G
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NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)
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rs1292452485
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NM_000532.5(PCCB):c.1523del (p.Pro508fs)
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NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter)
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rs749908889
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NM_000532.5(PCCB):c.154_183+17del
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rs2108128051
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NM_000532.5(PCCB):c.155_183+17del
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rs1941483558
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NM_000532.5(PCCB):c.1597A>G (p.Lys533Glu)
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rs1935483520
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NM_000532.5(PCCB):c.167_179delinsC (p.Asp56_Lys60delinsAla)
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NM_000532.5(PCCB):c.175C>A (p.His59Asn)
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NM_000532.5(PCCB):c.183+1G>A
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rs398123460
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NM_000532.5(PCCB):c.183+1G>C
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NM_000532.5(PCCB):c.183+3G>C
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rs398123461
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NM_000532.5(PCCB):c.183+5G>A
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rs879253813
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NM_000532.5(PCCB):c.183+5G>T
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NM_000532.5(PCCB):c.184-1G>A
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rs886044246
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NM_000532.5(PCCB):c.184-2A>C
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NM_000532.5(PCCB):c.184-2A>G
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rs1553774015
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NM_000532.5(PCCB):c.187_203del
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rs2108137253
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NM_000532.5(PCCB):c.196del (p.Ala66fs)
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rs1553774018
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NM_000532.5(PCCB):c.303+1G>T
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rs1941662983
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NM_000532.5(PCCB):c.304-1G>A
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NM_000532.5(PCCB):c.304-2A>G
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NM_000532.5(PCCB):c.319G>A (p.Val107Met)
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rs1553774114
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NM_000532.5(PCCB):c.334G>A (p.Gly112Ser)
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rs1941676220
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NM_000532.5(PCCB):c.365T>C (p.Phe122Ser)
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rs1576402832
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NM_000532.5(PCCB):c.371dup (p.Asp125fs)
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NM_000532.5(PCCB):c.372+1G>A
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NM_000532.5(PCCB):c.372+2T>C
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rs879253814
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NM_000532.5(PCCB):c.373-1G>C
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rs2108144374
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NM_000532.5(PCCB):c.429+1G>A
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rs1317017233
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NM_000532.5(PCCB):c.429+3_429+6del
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rs1941792728
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NM_000532.5(PCCB):c.433_434insGCTGTTA (p.Met145fs)
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rs2108146615
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NM_000532.5(PCCB):c.446dup (p.Thr150fs)
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NM_000532.5(PCCB):c.484G>A (p.Gly162Arg)
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NM_000532.5(PCCB):c.487_488dup (p.Ala164fs)
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rs1553774884
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NM_000532.5(PCCB):c.488del (p.Gly163fs)
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NM_000532.5(PCCB):c.493C>G (p.Arg165Gly)
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rs879253815
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NM_000532.5(PCCB):c.494G>C (p.Arg165Pro)
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NM_000532.5(PCCB):c.499C>T (p.Gln167Ter)
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NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
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rs755776820
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NM_000532.5(PCCB):c.518_543del (p.Ser172_Leu173insTer)
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rs2108146780
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NM_000532.5(PCCB):c.52del (p.Ala18fs)
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NM_000532.5(PCCB):c.543+1G>A
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rs2108146835
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NM_000532.5(PCCB):c.543+1G>C
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NM_000532.5(PCCB):c.543+2T>G
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NM_000532.5(PCCB):c.553dup (p.Thr185fs)
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rs777455573
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NM_000532.5(PCCB):c.593G>A (p.Gly198Asp)
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NM_000532.5(PCCB):c.601_602insGG (p.Ala201fs)
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rs1553777571
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NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
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rs760499581
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NM_000532.5(PCCB):c.614T>G (p.Val205Gly)
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NM_000532.5(PCCB):c.624_627dup (p.Leu210fs)
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NM_000532.5(PCCB):c.632C>G (p.Thr211Arg)
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rs2108182082
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NM_000532.5(PCCB):c.638del (p.Phe213fs)
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rs1196443543
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NM_000532.5(PCCB):c.649dup (p.Val217fs)
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rs796052021
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NM_000532.5(PCCB):c.654+1G>C
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rs1553777590
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NM_000532.5(PCCB):c.655-2A>G
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rs1553778865
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NM_000532.5(PCCB):c.682C>G (p.Pro228Ala)
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rs1052979420
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NM_000532.5(PCCB):c.703A>C (p.Thr235Pro)
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rs1021206121
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NM_000532.5(PCCB):c.732dup (p.Gly245fs)
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rs2108197325
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NM_000532.5(PCCB):c.733G>T (p.Gly245Cys)
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NM_000532.5(PCCB):c.737G>A (p.Gly246Asp)
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NM_000532.5(PCCB):c.748C>T (p.His250Tyr)
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NM_000532.5(PCCB):c.749A>G (p.His250Arg)
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rs1933813724
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NM_000532.5(PCCB):c.763+1G>A
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rs1553778912
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NM_000532.5(PCCB):c.763+2T>A
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rs1553778914
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NM_000532.5(PCCB):c.763G>A (p.Gly255Ser)
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rs1553778909
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NM_000532.5(PCCB):c.77_183+30delinsCC
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NM_000532.5(PCCB):c.791A>G (p.Asp264Gly)
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rs1560017781
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NM_000532.5(PCCB):c.800C>A (p.Ala267Asp)
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rs774249198
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NM_000532.5(PCCB):c.809del (p.Asn270fs)
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NM_000532.5(PCCB):c.835C>T (p.Pro279Ser)
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NM_000532.5(PCCB):c.836C>G (p.Pro279Arg)
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rs780837200
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NM_000532.5(PCCB):c.838dup (p.Leu280fs)
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rs769968548
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NM_000532.5(PCCB):c.847C>T (p.Gln283Ter)
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NM_000532.5(PCCB):c.854del (p.Pro285fs)
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NM_000532.5(PCCB):c.884+1G>A
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NM_000532.5(PCCB):c.884+1G>C
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rs1553779458
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NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
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rs752029455
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NM_000532.5(PCCB):c.885-2A>G
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rs1553780163
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NM_000532.5(PCCB):c.923T>A (p.Leu308Ter)
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NM_000532.5(PCCB):c.934A>T (p.Lys312Ter)
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NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
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rs2108208811
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NM_000532.5(PCCB):c.967-2A>C
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rs1553782747
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